MED13L gene

Known as: KIAA1025, THRAP2, TRAP240-LIKE PROTEIN 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2003-2017
02420032017

Papers overview

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2018
2018
We report two unrelated patients with Pierre Robin sequence (PRS) and a strikingly similar combination of associated features… (More)
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2017
2017
Clinicians should consider that clinical exome sequencing provides the unique potential to disentangle complex phenotypes into… (More)
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2017
2017
BACKGROUND Intellectual disability is a very complex condition where more than 600 genes have been reported. Due to this… (More)
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Review
2017
Review
2017
A decade after the designation of MED13L as a gene and its link to intellectual disability (ID) and dextro-looped transposition… (More)
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2015
2015
MED13L haploinsufficiency syndrome has been described in two patients and is characterized by moderate intellectual disability… (More)
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2015
2015
MED13L haploinsufficiency has recently been described as responsible for syndromic intellectual disability. We planned a search… (More)
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Highly Cited
2014
Highly Cited
2014
Genetics is believed to have an important role in intellectual disability (ID). Recent studies have emphasized the involvement of… (More)
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Review
2014
Review
2014
MED13L is a component subunit of the Mediator complex, an important regulator of transcription that is highly conserved across… (More)
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2013
2013
A chromosomal balanced translocation disrupting the MED13L (Mediator complex subunit13-like) gene, encoding a subunit of the… (More)
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2003
2003
BACKGROUND Congenital heart disease represents the most common severe birth defect, affecting 0.7% to 1% of all neonates, among… (More)
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